Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000372841 | SCV000334679 | other | not provided | 2015-08-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859568 | SCV002270539 | uncertain significance | Metachromatic leukodystrophy | 2022-02-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 466 of the ARSA protein (p.Ala466Val). This variant is present in population databases (rs763065602, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. This variant is also known as A464V. ClinVar contains an entry for this variant (Variation ID: 282932). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARSA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |